Incidental Mutation 'R8243:Igfbp7'
ID 637643
Institutional Source Beutler Lab
Gene Symbol Igfbp7
Ensembl Gene ENSMUSG00000036256
Gene Name insulin-like growth factor binding protein 7
Synonyms AGM, Fstl2, mac25
MMRRC Submission 067648-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8243 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 77497092-77555892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77549339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 188 (E188V)
Ref Sequence ENSEMBL: ENSMUSP00000128318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046746] [ENSMUST00000163898]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046746
SMART Domains Protein: ENSMUSP00000045057
Gene: ENSMUSG00000036256

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IB 30 113 9.23e-19 SMART
KAZAL 110 156 6.39e-12 SMART
IG 166 266 5.53e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163898
AA Change: E188V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128318
Gene: ENSMUSG00000036256
AA Change: E188V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IB 30 113 9.23e-19 SMART
KAZAL 110 156 6.39e-12 SMART
IG 197 297 5.53e-6 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.7%
  • 20x: 96.0%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded mammary gland developmental in virgin and adult females, reduced mammary gland size and alveolar density during pregnancy, precocious involution in lactating mammary glands, and abnormal milk composition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T A 11: 46,015,909 (GRCm39) H356Q probably damaging Het
BC030500 T C 8: 59,365,388 (GRCm39) I13T unknown Het
Bcl6 C T 16: 23,786,883 (GRCm39) C636Y probably damaging Het
Cabyr G T 18: 12,883,759 (GRCm39) C82F probably benign Het
Clec4a1 T C 6: 122,901,778 (GRCm39) V70A possibly damaging Het
Col11a1 C T 3: 113,855,141 (GRCm39) P134S unknown Het
Col27a1 A G 4: 63,144,120 (GRCm39) T603A probably damaging Het
Col6a6 T C 9: 105,576,468 (GRCm39) D1964G probably damaging Het
Dnajc8 A G 4: 132,278,775 (GRCm39) probably null Het
E330034G19Rik T C 14: 24,358,360 (GRCm39) Y318H Het
Efemp1 T A 11: 28,871,690 (GRCm39) S402T probably damaging Het
Emcn T C 3: 137,097,411 (GRCm39) V110A possibly damaging Het
Fgd5 C T 6: 91,966,004 (GRCm39) L746F possibly damaging Het
Gna13 A G 11: 109,287,239 (GRCm39) N354S probably damaging Het
Helq G T 5: 100,918,348 (GRCm39) S855R possibly damaging Het
Hps5 G T 7: 46,436,066 (GRCm39) A160E probably damaging Het
Ivd A G 2: 118,702,018 (GRCm39) Y150C probably damaging Het
Jade2 T C 11: 51,708,045 (GRCm39) T723A probably benign Het
Kif1b T C 4: 149,288,724 (GRCm39) N1239S probably benign Het
Klb A G 5: 65,536,338 (GRCm39) N556S possibly damaging Het
Klhdc8a C T 1: 132,230,304 (GRCm39) R140C possibly damaging Het
Klhl2 T A 8: 65,202,084 (GRCm39) M531L probably benign Het
Mark3 T A 12: 111,613,956 (GRCm39) S546R possibly damaging Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Musk G A 4: 58,293,600 (GRCm39) R63K probably benign Het
Nacad C T 11: 6,552,643 (GRCm39) E183K probably damaging Het
Oasl1 T C 5: 115,066,220 (GRCm39) Y113H probably benign Het
Or10g9b A T 9: 39,917,484 (GRCm39) C254S probably benign Het
Or1x2 C T 11: 50,918,138 (GRCm39) T103M probably benign Het
Or4c111 T A 2: 88,844,051 (GRCm39) Y119F probably benign Het
Or51ab3 A T 7: 103,201,205 (GRCm39) D71V probably damaging Het
Or8b56 A G 9: 38,739,803 (GRCm39) E272G Het
P4hb T C 11: 120,454,206 (GRCm39) D296G probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekhh1 G A 12: 79,125,843 (GRCm39) R1293H probably benign Het
Prss21 A G 17: 24,088,376 (GRCm39) T114A probably damaging Het
Ptprn T C 1: 75,229,179 (GRCm39) D776G probably damaging Het
Rffl A G 11: 82,703,621 (GRCm39) C101R probably damaging Het
Rundc1 A G 11: 101,316,384 (GRCm39) D152G probably benign Het
Sema6c A G 3: 95,079,916 (GRCm39) T737A probably damaging Het
Sppl2c A G 11: 104,078,687 (GRCm39) T496A probably damaging Het
Supt7l T C 5: 31,673,013 (GRCm39) I412V probably benign Het
Trim38 T A 13: 23,975,378 (GRCm39) I439N probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Usp18 G A 6: 121,246,103 (GRCm39) R353H probably benign Het
Usp42 T C 5: 143,700,849 (GRCm39) K1058R probably benign Het
Utp25 T C 1: 192,796,937 (GRCm39) D598G probably benign Het
Other mutations in Igfbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Igfbp7 APN 5 77,499,884 (GRCm39) splice site probably benign
IGL01528:Igfbp7 APN 5 77,499,179 (GRCm39) missense probably damaging 1.00
IGL02964:Igfbp7 APN 5 77,499,188 (GRCm39) missense possibly damaging 0.65
IGL03223:Igfbp7 APN 5 77,497,318 (GRCm39) utr 3 prime probably benign
R0403:Igfbp7 UTSW 5 77,503,438 (GRCm39) missense probably benign 0.36
R0639:Igfbp7 UTSW 5 77,499,827 (GRCm39) missense probably damaging 1.00
R4647:Igfbp7 UTSW 5 77,499,143 (GRCm39) missense possibly damaging 0.93
R4688:Igfbp7 UTSW 5 77,555,482 (GRCm39) missense probably damaging 1.00
R4945:Igfbp7 UTSW 5 77,499,104 (GRCm39) missense probably benign 0.44
R4970:Igfbp7 UTSW 5 77,555,608 (GRCm39) missense possibly damaging 0.83
R7095:Igfbp7 UTSW 5 77,549,337 (GRCm39) missense probably benign 0.28
R7332:Igfbp7 UTSW 5 77,499,803 (GRCm39) missense probably damaging 1.00
R7751:Igfbp7 UTSW 5 77,499,134 (GRCm39) missense probably damaging 1.00
R9709:Igfbp7 UTSW 5 77,549,384 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CGCTACAGTTTTCATGCCAC -3'
(R):5'- TGAGCTCCTGGAGTAGCTTTAG -3'

Sequencing Primer
(F):5'- TAACCTGAATGTGCCCGT -3'
(R):5'- CTCCTGGAGTAGCTTTAGAAAGG -3'
Posted On 2020-07-13